Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3331161015 | Fitzsimmons McLachlan Gilbert syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331163017 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331164011 | Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5402856019 | A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402857011 | A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Congenital paraplegia | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Spastic paraplegia | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Hereditary palmoplantar keratoderma | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 4 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Lower limb structure | false | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Skin structure | false | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Keratinization | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Abnormal | false | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Hyperkeratosis | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Skin structure of palmar area of hand | true | Inferred relationship | Some | 2 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Skin structure of sole of foot (body structure) | true | Inferred relationship | Some | 3 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Talipes cavus (disorder) | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Rough skin of hands | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Keratinization | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 6 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Foot structure | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Claw-shaped deformity | true | Inferred relationship | Some | 1 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Ankle region structure | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 7 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Is a | Inherited disorder of keratinisation | true | Inferred relationship | Some | ||
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 8 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | false | Inferred relationship | Some | 9 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Impaired | false | Inferred relationship | Some | 9 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Movement | true | Inferred relationship | Some | 11 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Movement observable | true | Inferred relationship | Some | 10 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Absent | true | Inferred relationship | Some | 10 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Structure of right lower limb (body structure) | true | Inferred relationship | Some | 9 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Finding site | Structure of left lower limb (body structure) | true | Inferred relationship | Some | 13 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 12 | |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 12 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)